Incidental Mutation 'R3836:Afg2a'
| ID |
275624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afg2a
|
| Ensembl Gene |
ENSMUSG00000027722 |
| Gene Name |
AFG2 AAA ATPase homolog A |
| Synonyms |
2510048F20Rik, Spata5, C78064, Spaf |
| MMRRC Submission |
040891-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
37474052-37633245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37487792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 428
(Y428N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029277]
[ENSMUST00000108112]
[ENSMUST00000198968]
|
| AlphaFold |
Q3UMC0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029277
AA Change: Y427N
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: Y427N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
135 |
2.47e-1 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
AAA
|
385 |
524 |
4.96e-21 |
SMART |
|
Blast:AAA
|
553 |
622 |
9e-21 |
BLAST |
|
AAA
|
659 |
797 |
2.48e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108112
AA Change: Y428N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: Y428N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
136 |
1.14e0 |
SMART |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
AAA
|
386 |
525 |
4.96e-21 |
SMART |
|
Blast:AAA
|
554 |
623 |
9e-21 |
BLAST |
|
AAA
|
660 |
798 |
2.48e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142199
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198968
AA Change: Y428N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: Y428N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
136 |
8.6e-5 |
SMART |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
AAA
|
386 |
525 |
8.2e-23 |
SMART |
|
Blast:AAA
|
554 |
623 |
7e-21 |
BLAST |
|
AAA
|
660 |
798 |
4e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.6443 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
A |
G |
5: 77,026,315 (GRCm39) |
V903A |
probably benign |
Het |
| Ankrd6 |
T |
A |
4: 32,817,531 (GRCm39) |
D271V |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,092,829 (GRCm39) |
V167M |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,656,806 (GRCm39) |
P442Q |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,790 (GRCm39) |
E476G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
| Crym |
A |
G |
7: 119,800,439 (GRCm39) |
V61A |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,844,623 (GRCm39) |
|
probably null |
Het |
| Dtna |
A |
T |
18: 23,758,159 (GRCm39) |
Q488L |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,078,378 (GRCm39) |
L565R |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fnbp4 |
A |
G |
2: 90,577,129 (GRCm39) |
T154A |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,781,290 (GRCm39) |
L32P |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
G |
4: 96,650,334 (GRCm39) |
T171P |
probably damaging |
Het |
| Gm4868 |
A |
C |
5: 125,925,014 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Gstm5 |
T |
C |
3: 107,803,678 (GRCm39) |
I37T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga11 |
G |
T |
9: 62,676,565 (GRCm39) |
V918L |
probably benign |
Het |
| Itgb2l |
T |
A |
16: 96,227,367 (GRCm39) |
M559L |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,984,988 (GRCm39) |
|
probably null |
Het |
| Map3k11 |
A |
G |
19: 5,740,831 (GRCm39) |
E186G |
possibly damaging |
Het |
| Mbl2 |
T |
C |
19: 30,216,914 (GRCm39) |
F242S |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,672,675 (GRCm39) |
T102A |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mkln1 |
A |
G |
6: 31,445,271 (GRCm39) |
D389G |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Myd88 |
A |
G |
9: 119,167,259 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,183,082 (GRCm39) |
E502K |
probably damaging |
Het |
| Nudt5 |
T |
A |
2: 5,871,158 (GRCm39) |
|
probably null |
Het |
| Or52b2 |
G |
A |
7: 104,986,417 (GRCm39) |
P169S |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 58,906,586 (GRCm39) |
S87P |
possibly damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,039 (GRCm39) |
V140M |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,029,006 (GRCm39) |
V30A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,475,159 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
A |
G |
14: 66,393,791 (GRCm39) |
L894P |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,755,078 (GRCm39) |
S183P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,116,012 (GRCm39) |
Y2999H |
probably damaging |
Het |
| Rims4 |
A |
G |
2: 163,760,573 (GRCm39) |
S11P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,829,822 (GRCm39) |
K448R |
possibly damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,463,816 (GRCm39) |
T33S |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,724,897 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,807,176 (GRCm39) |
M158K |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,949 (GRCm39) |
I724N |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,614,055 (GRCm39) |
T738A |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,533 (GRCm39) |
E20D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
C |
A |
6: 123,830,044 (GRCm39) |
D36Y |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,482,511 (GRCm39) |
V946A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,700,019 (GRCm39) |
T14I |
probably benign |
Het |
|
| Other mutations in Afg2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Afg2a
|
APN |
3 |
37,505,951 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL00472:Afg2a
|
APN |
3 |
37,490,793 (GRCm39) |
missense |
probably benign |
|
|
IGL02664:Afg2a
|
APN |
3 |
37,490,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Afg2a
|
APN |
3 |
37,512,465 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Afg2a
|
APN |
3 |
37,518,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02891:Afg2a
|
APN |
3 |
37,480,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03065:Afg2a
|
APN |
3 |
37,486,328 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03121:Afg2a
|
APN |
3 |
37,518,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Afg2a
|
APN |
3 |
37,632,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Afg2a
|
UTSW |
3 |
37,486,312 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0621:Afg2a
|
UTSW |
3 |
37,486,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0908:Afg2a
|
UTSW |
3 |
37,485,772 (GRCm39) |
splice site |
probably null |
|
|
R1773:Afg2a
|
UTSW |
3 |
37,493,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2016:Afg2a
|
UTSW |
3 |
37,632,911 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3714:Afg2a
|
UTSW |
3 |
37,487,358 (GRCm39) |
missense |
probably benign |
|
|
R4548:Afg2a
|
UTSW |
3 |
37,486,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4695:Afg2a
|
UTSW |
3 |
37,512,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Afg2a
|
UTSW |
3 |
37,487,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5009:Afg2a
|
UTSW |
3 |
37,487,426 (GRCm39) |
splice site |
probably benign |
|
|
R5839:Afg2a
|
UTSW |
3 |
37,518,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Afg2a
|
UTSW |
3 |
37,582,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Afg2a
|
UTSW |
3 |
37,485,847 (GRCm39) |
nonsense |
probably null |
|
|
R7450:Afg2a
|
UTSW |
3 |
37,510,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Afg2a
|
UTSW |
3 |
37,632,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7898:Afg2a
|
UTSW |
3 |
37,474,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8108:Afg2a
|
UTSW |
3 |
37,485,931 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8511:Afg2a
|
UTSW |
3 |
37,490,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8870:Afg2a
|
UTSW |
3 |
37,502,661 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8941:Afg2a
|
UTSW |
3 |
37,486,142 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9475:Afg2a
|
UTSW |
3 |
37,486,058 (GRCm39) |
missense |
probably benign |
|
|
R9605:Afg2a
|
UTSW |
3 |
37,505,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Afg2a
|
UTSW |
3 |
37,485,899 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTTTACCCACGTGCTTAGCC -3'
(R):5'- TAAAACTCCCATCAGTCTCTAAGG -3'
Sequencing Primer
(F):5'- GTGCTTAGCCAGACCTCATAC -3'
(R):5'- TCAGTCTCTAAGGCCATCAATATAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation